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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-66520641-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=66520641&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 66520641,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013266.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1507A>C",
"hgvs_p": "p.Ile503Leu",
"transcript": "NM_013266.4",
"protein_id": "NP_037398.2",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 895,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 10696,
"mane_select": "ENST00000433211.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013266.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1507A>C",
"hgvs_p": "p.Ile503Leu",
"transcript": "ENST00000433211.7",
"protein_id": "ENSP00000389714.1",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 895,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 10696,
"mane_select": "NM_013266.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433211.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1507A>C",
"hgvs_p": "p.Ile503Leu",
"transcript": "NM_001127384.3",
"protein_id": "NP_001120856.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 895,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 10620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127384.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1507A>C",
"hgvs_p": "p.Ile503Leu",
"transcript": "ENST00000682758.1",
"protein_id": "ENSP00000508047.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 895,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 10763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682758.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1507A>C",
"hgvs_p": "p.Ile503Leu",
"transcript": "ENST00000684154.1",
"protein_id": "ENSP00000508371.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 895,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 10766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684154.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1507A>C",
"hgvs_p": "p.Ile503Leu",
"transcript": "ENST00000682945.1",
"protein_id": "ENSP00000506843.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 828,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682945.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1732A>C",
"hgvs_p": "p.Ile578Leu",
"transcript": "XM_017016152.2",
"protein_id": "XP_016871641.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 970,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 1974,
"cdna_end": null,
"cdna_length": 10962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016152.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1576A>C",
"hgvs_p": "p.Ile526Leu",
"transcript": "XM_017016151.2",
"protein_id": "XP_016871640.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 918,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 10689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016151.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.1543A>C",
"hgvs_p": "p.Ile515Leu",
"transcript": "XM_047425124.1",
"protein_id": "XP_047281080.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 907,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 10738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425124.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.724A>C",
"hgvs_p": "p.Ile242Leu",
"transcript": "XM_017016155.3",
"protein_id": "XP_016871644.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 634,
"cds_start": 724,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 10075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016155.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.724A>C",
"hgvs_p": "p.Ile242Leu",
"transcript": "XM_017016156.2",
"protein_id": "XP_016871645.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 634,
"cds_start": 724,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 10012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016156.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "c.412A>C",
"hgvs_p": "p.Ile138Leu",
"transcript": "XM_017016157.3",
"protein_id": "XP_016871646.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 530,
"cds_start": 412,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 10103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016157.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.1701A>C",
"hgvs_p": null,
"transcript": "ENST00000683272.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*1031A>C",
"hgvs_p": null,
"transcript": "ENST00000683963.1",
"protein_id": "ENSP00000507029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.608A>C",
"hgvs_p": null,
"transcript": "ENST00000684489.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000684489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*1031A>C",
"hgvs_p": null,
"transcript": "ENST00000683963.1",
"protein_id": "ENSP00000507029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"hgvs_c": "n.*1070+101051A>C",
"hgvs_p": null,
"transcript": "ENST00000683624.1",
"protein_id": "ENSP00000507406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298814",
"gene_hgnc_id": null,
"hgvs_c": "n.65+12287T>G",
"hgvs_p": null,
"transcript": "ENST00000758093.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000758093.1"
}
],
"gene_symbol": "CTNNA3",
"gene_hgnc_id": 2511,
"dbsnp": "rs147802834",
"frequency_reference_population": 0.000023611548,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000178418,
"gnomad_genomes_af": 0.0000788799,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30263662338256836,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.2065,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.413,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_013266.4",
"gene_symbol": "CTNNA3",
"hgnc_id": 2511,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1507A>C",
"hgvs_p": "p.Ile503Leu"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000758093.1",
"gene_symbol": "ENSG00000298814",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.65+12287T>G",
"hgvs_p": null
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 13",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Arrhythmogenic right ventricular dysplasia 13",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}